ICMR Study Finds Genetic Markers Linked to Endometriosis in Indian Women

A study has identified genetic markers linked to endometriosis in Indian women, marking the first time researchers have analysed the genomes of South Asian women to understand the painful condition. Published in the peer-reviewed journal Scientific Reports, the research was led by the Indian Council of Medical Research–National Institute for Research on Reproductive and Child Health (ICMR–NIRRCH) in Mumbai, working with Australia's University of Queensland, and brought together 18 public and private hospitals across India.

Endometriosis occurs when tissue similar to the lining of the uterus grows outside the organ. It is a long-term condition that causes severe pelvic pain, painful intercourse, chronic fatigue and infertility. The condition affects roughly 10% of women of reproductive age worldwide, including an estimated 50 million women in India out of 247 million globally, though many women wait years for a diagnosis because severe menstrual pain is often dismissed or normalised.

By comparing DNA from women with surgically confirmed endometriosis against healthy individuals, the researchers pinpointed 21 distinct genetic regions linked to the condition, with the strongest signal appearing on chromosome 13 — including the WNT4 and CDKN2B-AS1 genes. The data showed that while Indian women share several genetic risks with global populations, they also carry distinct genetic signals unique to the region.

"While these findings are not meant for immediate clinical testing, they establish a crucial foundation for understanding disease biology and developing risk-prediction tools tailored to South Asian women," said lead author Dr. Sandhya Anand. Most global genetic studies on endometriosis have focused almost entirely on women of European and East Asian descent.

"This research helps bridge that global gap by providing data rooted in India's unique clinical realities and genetic diversity," said Dr. Rahul K. Gajbhiye, the study's principal investigator. The findings come as the World Health Organization updates its global guidelines for managing endometriosis.